D61N (p.Asp61Asn) variant of C3 (Complement C3)
D61N (p.Asp61Asn) in C3 (Complement C3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified; Atypical hemolytic-uremic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
D61N (p.Asp61Asn) variant details
- p.Asp61Asn
- rs778521833
- ExAC rs778521833
- TOPMed rs778521833
- gnomAD rs778521833
- Uncertain significance
- not specified; Atypical hemolytic-uremic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.40
- CADD 23.30
- PolyPhen-2 1.00
- SIFT 0.15
- ClinVar: Uncertain significance (not specified; Atypical hemolytic-uremic syndrome)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available